Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

26512

Name

INTS6

Synonymous

integrator complex subunit 6;INTS6;integrator complex subunit 6

Definition

DEAD box protein|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26|RNA helicase HDB|protein deleted in cancer 1

Position

13q14.3

Gene Type

protein-coding

Mutation summary:

Mutations in domains
Mutational pattern in 17 major cancer types
LoF vs missense mutations
All the copy number variations from COSMIC database V72
All the mutations from COSMIC database V72

Mutation summary in protein domains

Top

We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.09.

The copy number variations for various cancers

Top

The copy number variations in 17 major cancer groups: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.752A>T; p.D251V; 13:51387528-51387528

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2056A>G; p.T686A; 13:51374256-51374256

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2500C>A; p.L834M; 13:51367875-51367875

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.363G>A; p.E121E; 13:51430360-51430360

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.437T>C; p.L146S; 13:51395476-51395476

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1726G>A; p.E576K; 13:51376051-51376051

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2346A>T; p.Q782H; 13:51369069-51369069

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.324A>T; p.I108I; 13:51451040-51451040

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2046A>C; p.P682P; 13:51374266-51374266

 breastcarcinomaSubstitution - coding silent

c.1174C>G; p.L392V; 13:51383335-51383335

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.69C>A; p.T23T; 13:51452457-51452457

 breastcarcinomaSubstitution - coding silent

c.2070G>A; p.Q690Q; 13:51374242-51374242

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2242C>A; p.P748T; 13:51369173-51369173

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1970G>A; p.R657H; 13:51374342-51374342

 bone; extraskeletalEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.222G>T; p.M74I; 13:51451142-51451142

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1653T>A; p.N551K; 13:51376124-51376124

 breastcarcinomaSubstitution - Missense

c.2260G>A; p.A754T; 13:51369155-51369155

 adrenal_gland; adrenal_glandadrenal_cortical_adenoma; cortisol_producingSubstitution - Missense

c.2287A>G; p.N763D; 13:51369128-51369128

 pancreascarcinomaSubstitution - Missense

c.2335G>T; p.D779Y; 13:51369080-51369080

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1956G>A; p.G652G; 13:51374356-51374356

 NSNSSubstitution - coding silent

c.491G>A; p.W164*; 13:51395422-51395422

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemiaSubstitution - Nonsense

c.2478A>C; p.K826N; 13:51367897-51367897

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.885G>A; p.S295S; 13:51387395-51387395

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.844C>T; p.H282Y; 13:51387436-51387436

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.520C>T; p.R174W; 13:51395393-51395393

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.520C>T; p.R174W; 13:51395393-51395393

 breastcarcinomaSubstitution - Missense

c.520C>T; p.R174W; 13:51395393-51395393

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1084G>T; p.G362C; 13:51383425-51383425

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2036delG; p.G679fs*32; 13:51374276-51374276

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1612C>T; p.P538S; 13:51376165-51376165

 bone; pelvischondrosarcomaSubstitution - Missense

c.298A>C; p.N100H; 13:51451066-51451066

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.544G>T; p.E182*; 13:51395369-51395369

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.940T>C; p.C314R; 13:51383696-51383696

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1730-1G>A; p.?; 13:51374797-51374797

 pancreascarcinomaUnknown

c.2293C>A; p.L765I; 13:51369122-51369122

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1469C>G; p.S490*; 13:51378372-51378372

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1585G>A; p.V529I; 13:51378256-51378256

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2T>C; p.M1T; 13:51452524-51452524

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2213C>G; p.A738G; 13:51369202-51369202

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1466G>A; p.R489Q; 13:51378375-51378375

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.308G>T; p.R103I; 13:51451056-51451056

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.478G>A; p.E160K; 13:51395435-51395435

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1959C>G; p.I653M; 13:51374353-51374353

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2581C>T; p.R861*; 13:51365835-51365835

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2360A>G; p.N787S; 13:51369055-51369055

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.114C>T; p.L38L; 13:51452053-51452053

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1664A>G; p.H555R; 13:51376113-51376113

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1374_1375insA; p.L459fs*10; 13:51379473-51379474

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.1663C>T; p.H555Y; 13:51376114-51376114

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.1950G>A; p.M650I; 13:51374362-51374362

 stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableSubstitution - Missense

c.1654C>A; p.L552I; 13:51376123-51376123

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2652T>C; p.I884I; 13:51365764-51365764

 pancreascarcinomaSubstitution - coding silent

c.884C>T; p.S295L; 13:51387396-51387396

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1306G>A; p.A436T; 13:51379542-51379542

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.884C>T; p.S295L; 13:51387396-51387396

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.884C>T; p.S295L; 13:51387396-51387396

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.884C>T; p.S295L; 13:51387396-51387396

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1692G>A; p.L564L; 13:51376085-51376085

 skinmalignant_melanomaSubstitution - coding silent

c.1159C>G; p.P387A; 13:51383350-51383350

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.386C>G; p.T129S; 13:51430337-51430337

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2104+7A>G; p.?; 13:51374201-51374201

 livercarcinomaUnknown

c.2104+7A>G; p.?; 13:51374201-51374201

 livercarcinomaUnknown

c.1694A>C; p.K565T; 13:51376083-51376083

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.679G>T; p.V227L; 13:51389379-51389379

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.815C>T; p.P272L; 13:51387465-51387465

 skinmalignant_melanomaSubstitution - Missense

c.1851C>T; p.N617N; 13:51374675-51374675

 skinmalignant_melanomaSubstitution - coding silent

c.1180G>C; p.D394H; 13:51383329-51383329

 kidneycarcinoma; renal_cell_carcinomaSubstitution - Missense

c.1904T>G; p.V635G; 13:51374408-51374408

 breastcarcinomaSubstitution - Missense

c.849G>T; p.W283C; 13:51387431-51387431

 breastcarcinomaSubstitution - Missense

c.146G>T; p.R49M; 13:51452021-51452021

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.2150A>G; p.N717S; 13:51369265-51369265

 livercarcinomaSubstitution - Missense

c.2150A>G; p.N717S; 13:51369265-51369265

 livercarcinomaSubstitution - Missense

c.23T>A; p.I8K; 13:51452503-51452503

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2580delA; p.K860fs*4; 13:51365836-51365836

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.2439A>C; p.K813N; 13:51368976-51368976

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2580delA; p.K860fs*4; 13:51365836-51365836

 stomachadenocarcinomaDeletion - Frameshift

c.1984_1985CC>TT; p.P662L; 13:51374327-51374328

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.550G>A; p.E184K; 13:51395363-51395363

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1967G>T; p.R656I; 13:51374345-51374345

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1967G>T; p.R656I; 13:51374345-51374345

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.2639A>G; p.Q880R; 13:51365777-51365777

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2171C>T; p.S724L; 13:51369244-51369244

 skinmalignant_melanomaSubstitution - Missense

c.2171C>T; p.S724L; 13:51369244-51369244

 skin; handcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.214A>C; p.T72P; 13:51451150-51451150

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1822C>T; p.Q608*; 13:51374704-51374704

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.1600A>G; p.K534E; 13:51378241-51378241

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1237G>C; p.E413Q; 13:51382067-51382067

 breastcarcinomaSubstitution - Missense

c.2391G>T; p.K797N; 13:51369024-51369024

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2478A>G; p.K826K; 13:51367897-51367897

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1321G>A; p.A441T; 13:51379527-51379527

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1400C>T; p.S467F; 13:51378441-51378441

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2176G>C; p.D726H; 13:51369239-51369239

 large_intestine; colonadenomaSubstitution - Missense

c.1903G>C; p.V635L; 13:51374409-51374409

 breastcarcinomaSubstitution - Missense

c.716G>T; p.G239V; 13:51389342-51389342

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1673G>C; p.R558T; 13:51376104-51376104

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1328G>T; p.S443I; 13:51379520-51379520

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1649G>A; p.R550Q; 13:51376128-51376128

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2565A>G; p.A855A; 13:51367810-51367810

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.421C>T; p.Q141*; 13:51430302-51430302

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Nonsense

c.1504C>T; p.Q502*; 13:51378337-51378337

 skinmalignant_melanomaSubstitution - Nonsense

c.1919delA; p.N640fs*25; 13:51374393-51374393

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1153A>G; p.N385D; 13:51383356-51383356

 breastcarcinomaSubstitution - Missense

c.617G>A; p.R206H; 13:51389441-51389441

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.373A>G; p.I125V; 13:51430350-51430350

 skinmalignant_melanomaSubstitution - Missense

c.902G>A; p.R301H; 13:51383734-51383734

 breastcarcinomaSubstitution - Missense

c.1807G>T; p.E603*; 13:51374719-51374719

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1960C>T; p.P654S; 13:51374352-51374352

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1961C>T; p.P654L; 13:51374351-51374351

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.202G>T; p.E68*; 13:51451162-51451162

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2100T>G; p.H700Q; 13:51374212-51374212

 livercarcinomaSubstitution - Missense

c.2225C>A; p.A742D; 13:51369190-51369190

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1663C>A; p.H555N; 13:51376114-51376114

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1542C>A; p.H514Q; 13:51378299-51378299

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.108G>A; p.M36I; 13:51452418-51452418

 breastcarcinomaSubstitution - Missense

c.2048C>T; p.P683L; 13:51374264-51374264

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.122G>T; p.R41L; 13:51452045-51452045

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1596G>A; p.L532L; 13:51378245-51378245

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.247G>C; p.E83Q; 13:51451117-51451117

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.88G>A; p.G30S; 13:51452438-51452438

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2243C>G; p.P748R; 13:51369172-51369172

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1972C>T; p.R658W; 13:51374340-51374340

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.124G>A; p.D42N; 13:51452043-51452043

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.540A>G; p.S180S; 13:51395373-51395373

 livercarcinomaSubstitution - coding silent

c.540A>G; p.S180S; 13:51395373-51395373

 livercarcinomaSubstitution - coding silent

c.1824G>T; p.Q608H; 13:51374702-51374702

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemiaSubstitution - Missense

c.35C>T; p.A12V; 13:51452491-51452491

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1637A>G; p.D546G; 13:51376140-51376140

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.35C>T; p.A12V; 13:51452491-51452491

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1513C>T; p.L505F; 13:51378328-51378328

 skinmalignant_melanomaSubstitution - Missense

c.487C>T; p.R163C; 13:51395426-51395426

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2126C>T; p.S709L; 13:51369289-51369289

 skinmalignant_melanomaSubstitution - Missense

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